Stickler Syndrome | List of Frontiers open access articles

Original Research

Published on 19 Sep 2025

A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome

in Genetics of Common and Rare Diseases

Yanyu Lin
Xin Liu
Shuxian Lin
Jiansheng Lin

Frontiers in Genetics

doi 10.3389/fgene.2025.1646923

2,086 views

Case Report

Published on 26 Mar 2024

Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature

in Ophthalmology

Guina Liu
Ming Hu
Chengcheng Cai
Xiaoshuang Jiang
Fang Lu

Frontiers in Medicine

doi 10.3389/fmed.2024.1367281

2,900 views
2 citations

Original Research

Published on 04 Jun 2021

Targeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss

in Cell Growth and Division

Ziyi Liu
Xinfeng Bai
Peifeng Wan
Fan Mo
Ge Chen
Jian Zhang
Jiangang Gao

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.683495

5,007 views
12 citations

Original Research

Published on 10 Jul 2024

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

in Genetics of Common and Rare Diseases

Yujing Gong
Weijian Zhu
Mianmian Zhu
Dan Chen
Sunke Wu
Sisi Hu
Yi Luo
Yiyi Jiang
Ting Zhu
Dan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1308737

2,585 views

Case Report

Published on 06 Jun 2023

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2

in Genetics of Common and Rare Diseases

Ying Su
Chun-Qiong Ran
Zhe-Long Liu
Yan Yang
Gang Yuan
Shu-Hong Hu
Xue-Feng Yu
Wen-Tao He

Frontiers in Genetics

doi 10.3389/fgene.2023.1154087

4,498 views
1 citation

Original Research

Published on 22 Aug 2025

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Jie Zhang
Yaxin Huang
Yafei Deng
Xiaochun Yang
Hong Shi
Yuecheng Yang
Tao Lv
Yuanlong Yan
Ming He
Fang Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1642604

2,263 views

Original Research

Published on 18 Jul 2023

Pattern of choroidal thickness in early-onset high myopia

in Ophthalmology

Zhaoxin Jiang
Aohan Hou
Ting Zhang
Yanting Lai
Li Huang
Xiaoyan Ding

Frontiers in Medicine

doi 10.3389/fmed.2023.1156259

3,980 views
8 citations

Original Research

Published on 09 Apr 2025

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment

in Genetics of Common and Rare Diseases

Lin Zhou
Farrukhjon Boboev
Hui Chen
Fanwen Jiang
Chun Zhang
Jing Xiao
Hui Jiang
Yongchuan Liao
Zhuping Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1485874

4,276 views
1 citation

Articles

A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome

Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature

Targeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

Pattern of choroidal thickness in early-onset high myopia

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment